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Italian Journal of Pediatrics

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Open Access 01-12-2016 | Case report

Failure to thrive as presentation in a patient with 22q11.2 microdeletion

Authors: Grazia Bossi, Chiara Gertosio, Cristina Meazza, Giovanni Farello, Mauro Bozzola

Published in: Italian Journal of Pediatrics | Issue 1/2016

Abstract

Background

Abnormalities of chromosome 22q11, including deletions and translocations, have been described in association with different birth defects and malformations occurring in many combinations and degrees of severity.

Case presentation

We describe the case of an 8 month-old infant with no dysmorphic signs who showed progressive postnatal growth failure and no chronic systemic diseases. We found a 22q11.2 microdeletion, inherited from the mother, suggesting the diagnosis of DiGeorge syndrome. The patient had an isolated growth hormone (GH) deficiency and a significant increase in linear growth during the first and the second year of GH therapy, and a recovery of weight was shown.

Conclusions

Sometimes, in infants with growth failure a genetic analysis is strongly suggested, since chromosomal abnormalities may be present.

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Title: Failure to thrive as presentation in a patient with 22q11.2 microdeletion
Authors: Grazia Bossi
Chiara Gertosio
Cristina Meazza
Giovanni Farello
Mauro Bozzola
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Italian Journal of Pediatrics / Issue 1/2016
Electronic ISSN: 1824-7288
DOI: https://doi.org/10.1186/s13052-016-0224-0

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Failure to thrive as presentation in a patient with 22q11.2 microdeletion

Abstract

Background

Case presentation

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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